Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02403:Mfsd5'

291952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd5

Ensembl Gene

ENSMUSG00000045665

Gene Name

major facilitator superfamily domain containing 5

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.394) question?

Stock #

IGL02403

Quality Score

Status

Chromosome

Chromosomal Location

102187891-102190179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102188973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 115 (Y115C)

Ref Sequence

ENSEMBL: ENSMUSP00000061997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051341]

AlphaFold

Q921Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000051341
AA Change: Y115C

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061997
Gene: ENSMUSG00000045665
AA Change: Y115C

Domain	Start	End	E-Value	Type
Pfam:MFS_5	4	352	2.7e-84	PFAM
Pfam:MFS_1	46	393	2.6e-14	PFAM
transmembrane domain	407	429	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,755,227 (GRCm39)		probably null	Het
Alk	C	A	17: 72,208,388 (GRCm39)	G944V	probably damaging	Het
Alox15	T	C	11: 70,236,727 (GRCm39)	D446G	probably damaging	Het
Apof	A	G	10: 128,105,353 (GRCm39)		probably null	Het
Arhgap28	T	G	17: 68,180,154 (GRCm39)	D81A	possibly damaging	Het
Bltp1	T	C	3: 37,084,813 (GRCm39)	S3922P	probably benign	Het
Bms1	T	C	6: 118,382,185 (GRCm39)	E451G	possibly damaging	Het
C9orf72	A	G	4: 35,205,887 (GRCm39)		probably benign	Het
Capn13	T	A	17: 73,658,421 (GRCm39)	T216S	possibly damaging	Het
Ccdc28a	A	T	10: 18,089,931 (GRCm39)		probably benign	Het
Cdip1	T	C	16: 4,586,676 (GRCm39)	T150A	probably damaging	Het
Chrnb3	T	A	8: 27,883,836 (GRCm39)	L191Q	probably damaging	Het
Chst2	G	A	9: 95,287,285 (GRCm39)	Q354*	probably null	Het
Cldn11	T	C	3: 31,204,345 (GRCm39)	V16A	probably benign	Het
Cyp4f18	A	G	8: 72,752,072 (GRCm39)	M198T	probably damaging	Het
Dhx30	A	G	9: 109,920,587 (GRCm39)	L280P	probably damaging	Het
Disc1	A	G	8: 125,862,258 (GRCm39)		probably benign	Het
Dnm1l	T	C	16: 16,154,840 (GRCm39)	I172V	possibly damaging	Het
Edem2	T	C	2: 155,550,983 (GRCm39)	D328G	possibly damaging	Het
Fbxo10	G	A	4: 45,062,517 (GRCm39)	T3M	probably benign	Het
Fdxacb1	T	A	9: 50,682,863 (GRCm39)	S275R	possibly damaging	Het
Gm7275	C	A	16: 47,893,991 (GRCm39)		noncoding transcript	Het
Helz2	A	T	2: 180,872,815 (GRCm39)	I2468N	probably damaging	Het
Ift46	C	A	9: 44,698,176 (GRCm39)	P213Q	probably damaging	Het
Ift56	A	G	6: 38,386,373 (GRCm39)	M365V	possibly damaging	Het
Irf2	G	T	8: 47,299,207 (GRCm39)	V334F	probably damaging	Het
Lrp4	T	A	2: 91,338,927 (GRCm39)	V1786E	probably benign	Het
Muc5ac	A	G	7: 141,357,187 (GRCm39)	R1154G	possibly damaging	Het
Nek4	G	T	14: 30,686,008 (GRCm39)	E314*	probably null	Het
Oas2	C	T	5: 120,886,815 (GRCm39)	G117D	possibly damaging	Het
Or8j3b	A	T	2: 86,204,867 (GRCm39)	D296E	probably benign	Het
Pikfyve	C	T	1: 65,283,663 (GRCm39)	H767Y	probably damaging	Het
Pkhd1	T	C	1: 20,632,642 (GRCm39)	H591R	probably benign	Het
Pygl	T	A	12: 70,241,032 (GRCm39)	I672F	probably benign	Het
Rft1	G	T	14: 30,382,278 (GRCm39)		probably benign	Het
Ripor3	A	C	2: 167,831,250 (GRCm39)	L517R	probably damaging	Het
Serpina3b	A	G	12: 104,096,721 (GRCm39)	M1V	probably null	Het
Sgce	C	T	6: 4,694,059 (GRCm39)	R263Q	probably damaging	Het
Stard6	A	T	18: 70,629,183 (GRCm39)		probably null	Het
Them4	T	C	3: 94,230,978 (GRCm39)	F117L	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Vmn2r116	G	T	17: 23,606,338 (GRCm39)	D417Y	probably damaging	Het

Other mutations in Mfsd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Mfsd5	APN	15	102,189,525 (GRCm39)	missense	probably damaging	1.00
IGL01357:Mfsd5	APN	15	102,189,882 (GRCm39)	missense	probably benign
FR4340:Mfsd5	UTSW	15	102,189,596 (GRCm39)	missense	probably benign	0.11
R0387:Mfsd5	UTSW	15	102,189,531 (GRCm39)	missense	possibly damaging	0.70
R2912:Mfsd5	UTSW	15	102,189,743 (GRCm39)	missense	probably benign
R5328:Mfsd5	UTSW	15	102,189,447 (GRCm39)	missense	probably damaging	1.00
R5475:Mfsd5	UTSW	15	102,188,928 (GRCm39)	missense	probably damaging	0.99
R5759:Mfsd5	UTSW	15	102,189,513 (GRCm39)	missense	possibly damaging	0.77
R6005:Mfsd5	UTSW	15	102,189,927 (GRCm39)	missense	possibly damaging	0.83
R7373:Mfsd5	UTSW	15	102,189,427 (GRCm39)	missense	probably damaging	1.00
R7658:Mfsd5	UTSW	15	102,189,312 (GRCm39)	missense	probably benign	0.00
Z1177:Mfsd5	UTSW	15	102,189,690 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16